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Genomicsplc / wecall

Fast, accurate and simple to use command line tool for variant detection in NGS data.
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The reference genome #4

Open ad2n15 opened 5 years ago

ad2n15 commented 5 years ago

I am trying to merge gVCF files of UKBIOBANK to eazify the annotation process, but the merging tools in GATK, or BCFtools have a problem with the reference. Although UKBioBank states GRCH38 is used , but the gVCF files do not show chr letters. I will be happy to get the UKBIOBANK reference genome, as I know that Wecall is used for the variant calling of SPB-VCF files of UKBiobank

liamcurren commented 5 years ago

Thanks for getting in touch and for your interest in weCall! The variant calling in question was indeed done using weCall, but was conducted by Regeneron using a reference genome of its choosing. You will have to contact Regeneron to find out the details.